rs387906988

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs387906988(A;A)

Make rs387906988(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

64157319

Gene

PRICKLE2

is a	snp
is	mentioned by
dbSNP	rs387906988
dbSNP (classic)	rs387906988
ClinGen	rs387906988
ebi	rs387906988
HLI	rs387906988
Exac	rs387906988
Gnomad	rs387906988
Varsome	rs387906988
LitVar	rs387906988
Map	rs387906988
PheGenI	rs387906988
Biobank	rs387906988
1000 genomes	rs387906988
hgdp	rs387906988
ensembl	rs387906988
geneview	rs387906988
scholar	rs387906988
google	rs387906988
pharmgkb	rs387906988
gwascentral	rs387906988
openSNP	rs387906988
23andMe	rs387906988
SNPshot	rs387906988
SNPdbe	rs387906988
MSV3d	rs387906988
GWAS Ctlg	rs387906988

Max Magnitude

0

ClinVar
Risk	rs387906988(A;A)
Alt	rs387906988(A;A)
Reference	Rs387906988(G;G)
Significance	Pathogenic
Disease	Epilepsy
Variation	info
Gene	PRICKLE2
CLNDBN	Epilepsy, progressive myoclonic 5
Reversed	1
HGVS	NC_000003.11:g.64142995C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023709.4,